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Mental Retardation

MedGen UID:: 7544
•Concept ID:: C0025362
•: Mental or Behavioral Dysfunction

Synonym:

Mental retardation

Definition

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMental Retardation

Neurodevelopmental disorder
- Developmental disorder
  - Neurodevelopmental disorder
    - Developmental disorder
      - Neurodevelopmental disorder
        Developmental disorder
        Mental Retardation
        ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
        Alpha thalassemia-X-linked intellectual disability syndrome
        Borjeson-Forssman-Lehmann syndrome
        Christianson syndrome
        Intellectual disability, autosomal dominant 1
        Intellectual disability, autosomal dominant 5
        Intellectual disability, autosomal dominant 39
        Intellectual disability, autosomal recessive 34
        Intellectual disability, X-linked 1
        Mental Retardation, Autosomal Dominant 40
        Mental Retardation, X-linked 102
        Mental Retardation, X-linked 21/34
        Renpenning syndrome
        Hamel cerebro-palato-cardiac syndrome
        X-linked intellectual disability, Golabi-Ito-hall type
        X-linked intellectual disability, Porteous type
        X-linked intellectual disability, Sutherland-Haan type
        Severe intellectual disability-progressive spastic diplegia syndrome
        Syndromic X-linked intellectual disability Lubs type
        X-linked intellectual disability Cabezas type

Professional guidelines

PubMed

Joubert syndrome: Molecular basis and treatment.

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942 Free PMC Article

Sialorrhea: a management challenge.

Hockstein NG, Samadi DS, Gendron K, Handler SD
Am Fam Physician 2004 Jun 1;69(11):2628-34. PMID: 15202698

GENETIC COUNSELING.

PRIEST JH
J Am Med Womens Assoc 1964 Nov;19:961-3. PMID: 14216379

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Recent clinical studies

Etiology

Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome.

Hall DA, O'Keefe JA
Neurol Clin 2013 Nov;31(4):1073-84. Epub 2013 May 18 doi: 10.1016/j.ncl.2013.04.008. PMID: 24176424

The neurobiology of X-linked intellectual disability.

Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M
Neuroscientist 2013 Oct;19(5):541-52. Epub 2013 Jul 2 doi: 10.1177/1073858413493972. PMID: 23820068

Fragile X syndrome: from molecular genetics to therapy.

D'Hulst C, Kooy RF
J Med Genet 2009 Sep;46(9):577-84. doi: 10.1136/jmg.2008.064667. PMID: 19724010

The mGluR theory of fragile X mental retardation.

Bear MF, Huber KM, Warren ST
Trends Neurosci 2004 Jul;27(7):370-7. doi: 10.1016/j.tins.2004.04.009. PMID: 15219735

The genetics of mental retardation.

Thapar A, Gottesman II, Owen MJ, O'Donovan MC, McGuffin P
Br J Psychiatry 1994 Jun;164(6):747-58. doi: 10.1192/bjp.164.6.747. PMID: 7952981

See all (7036)

Diagnosis

Epigenetics of fragile X syndrome and fragile X-related disorders.

Kraan CM, Godler DE, Amor DJ
Dev Med Child Neurol 2019 Feb;61(2):121-127. Epub 2018 Aug 7 doi: 10.1111/dmcn.13985. PMID: 30084485

Ocular manifestations in the X-linked intellectual disability syndromes.

Couser NL, Masood MM, Aylsworth AS, Stevenson RE
Ophthalmic Genet 2017 Sep-Oct;38(5):401-412. Epub 2017 Jan 23 doi: 10.1080/13816810.2016.1247459. PMID: 28112979

Baraitser-Winter cerebrofrontofacial syndrome.

Yates TM, Turner CL, Firth HV, Berg J, Pilz DT
Clin Genet 2017 Jul;92(1):3-9. Epub 2016 Nov 30 doi: 10.1111/cge.12864. PMID: 27625340

XLMR genes: update 2007.

Chiurazzi P, Schwartz CE, Gecz J, Neri G
Eur J Hum Genet 2008 Apr;16(4):422-34. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201994. PMID: 18197188

BRACHMANN/DE LANGE SYNDROME.

OPITZ JM, SEGAL AT, LEHRKE R, NADLER H
Lancet 1964 Nov 7;2(7367):1019. doi: 10.1016/s0140-6736(64)90980-8. PMID: 14201663

See all (8800)

Therapy

Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.

Berry-Kravis E
J Child Neurol 2022 Oct;37(10-11):797-812. Epub 2022 Jul 5 doi: 10.1177/08830738221089740. PMID: 35791522

Thyroid Hormone Transporters.

Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE
Endocr Rev 2020 Apr 1;41(2) doi: 10.1210/endrev/bnz008. PMID: 31754699

Pharmacotherapy for Fragile X Syndrome: Progress to Date.

Davenport MH, Schaefer TL, Friedmann KJ, Fitzpatrick SE, Erickson CA
Drugs 2016 Mar;76(4):431-45. doi: 10.1007/s40265-016-0542-y. PMID: 26858239

Mechanism-based approaches to treating fragile X.

Dölen G, Carpenter RL, Ocain TD, Bear MF
Pharmacol Ther 2010 Jul;127(1):78-93. Epub 2010 Mar 18 doi: 10.1016/j.pharmthera.2010.02.008. PMID: 20303363

Fragile-X syndrome.

Simensen RJ, Rogers RC
Am Fam Physician 1989 May;39(5):185-93. PMID: 2655406

See all (2527)

Prognosis

Congenital hypothyroidism: recent advances.

Wassner AJ, Brown RS
Curr Opin Endocrinol Diabetes Obes 2015 Oct;22(5):407-12. doi: 10.1097/MED.0000000000000181. PMID: 26313902

Congenital hypothyroidism.

Jain V, Agarwal R, Deorari AK, Paul VK
Indian J Pediatr 2008 Apr;75(4):363-7. Epub 2008 May 18 doi: 10.1007/s12098-008-0040-7. PMID: 18536892

The incidence, origin, and etiology of aneuploidy.

Griffin DK
Int Rev Cytol 1996;167:263-96. doi: 10.1016/s0074-7696(08)61349-2. PMID: 8768496

Non-typhoid Salmonella meningitis.

Kavaliotis J, Tsiaousi A, Papavasiliou D, Kansouzidou A
Scand J Infect Dis 1994;26(4):403-5. doi: 10.3109/00365549409008612. PMID: 7984971

SIGMOID VOLVULUS.

ABRAMS BL
Arch Surg 1963 Dec;87:1033-9. doi: 10.1001/archsurg.1963.01310180149025. PMID: 14063812

See all (3524)

Clinical prediction guides

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

Guo Q, Kouyama-Suzuki E, Shirai Y, Cao X, Yanagawa T, Mori T, Tabuchi K
Cells 2023 Apr 18;12(8) doi: 10.3390/cells12081177. PMID: 37190086 Free PMC Article

Phenylketonuric patients represent their disease.

Iakovou K, Schulpis K
J Pediatr Endocrinol Metab 2019 Nov 26;32(11):1217-1220. doi: 10.1515/jpem-2019-0253. PMID: 31472069

FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia.

Budimirovic DB, Protic D
Vojnosanit Pregl 2016 Dec;73(12):1089-93. doi: 10.2298/VSP161006315B. PMID: 29341564

Developmental phonological disorders. I: A clinical profile.

Shriberg LD, Kwiatkowski J
J Speech Hear Res 1994 Oct;37(5):1100-26. doi: 10.1044/jshr.3705.1100. PMID: 7823556

Nomenclature guidelines for X-linked mental retardation.

Mulley JC, Kerr B, Stevenson R, Lubs H
Am J Med Genet 1992 Apr 15-May 1;43(1-2):383-91. doi: 10.1002/ajmg.1320430159. PMID: 1605216

See all (5221)

Recent systematic reviews

Pharmacological management of fragile X syndrome: a systematic review and narrative summary of the current evidence.

Watkins LV, Moon S, Burrows L, Tromans S, Barwell J, Shankar R
Expert Opin Pharmacother 2024 Feb;25(3):301-313. Epub 2024 Mar 18 doi: 10.1080/14656566.2024.2323605. PMID: 38393835

Calcium channelopathies and intellectual disability: a systematic review.

Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586 Free PMC Article

Epidemiology of fragile X syndrome: a systematic review and meta-analysis.

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

Systematic review of central nervous system anomalies in incontinentia pigmenti.

Minić S, Trpinac D, Obradović M
Orphanet J Rare Dis 2013 Feb 13;8:25. doi: 10.1186/1750-1172-8-25. PMID: 23406512 Free PMC Article

Prevalence of FMR1 repeat expansions in movement disorders. A systematic review.

Hall DA, Hagerman RJ, Hagerman PJ, Jacquemont S, Leehey MA
Neuroepidemiology 2006;26(3):151-5. Epub 2006 Feb 21 doi: 10.1159/000091656. PMID: 16493202

See all (79)

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